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題名 | Clinical and Electrophysiological Studies of a Family with Probable X-linked Dominant Charcot-Marie-Tooth Neuropathy and Ptosis=疑是性染色體顯性遺傳型Charcot-Marie-Tooth神經疾病(CMTX)併眼瞼下垂家族之臨床、電生理、分子基因研究 |
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作者 | 吳禹利; 王鴻利; 朱俊哲; 游家銘; 陳正友; 黃錦章; | 書刊名 | 長庚醫學 |
卷期 | 27:7 民93.07 |
頁次 | 頁489-500 |
分類號 | 415.135 |
關鍵詞 | 性染色體顯性遺傳型Charcot-Marie-Tooth神經疾病; 眼瞼下垂; 家族性甲狀腺機能亢進; 電生理學; 隙接合蛋白32; X-linked dominant Charcot-Marie-Tooth neuropathy; Electrophysiology; Connexin32; Ptosis; Familial hyperthyroidism; |
語文 | 英文(English) |
中文摘要 | 背景:性染色體顯緎遺傳型Charcot-Marie-Tooth神經疾病(CMTX)與connexin32(Cx32,隙接合蛋白32)基因突變有關,目前尚末有臺灣人CMTX的臨床與分子基因研報告。 方法:評估一臺灣人家族成員的臨床症狀與電生理檢查特徵,研究其Cx32基因是否突變,一位病人接受神經切片檢查。 結果:臨床上有9位病人表現中度Charcot-Marie-Tooth神經疾病症狀,分子基因學分析顯示在Cx32基因coding region沒有突變,而在神經特異promoter P2,亦即開始轉譯點疾病與家族緎甲狀腺機能亢進的病徵是獨立出現的。神經電生理學與病理檢查顯示為軸性(axonal)神經病變,誘發電位檢查顯示中樞運動與感覺神經傳導是正常的。 結論:此定族眼皮下垂症狀顯示CMTX臨床表徵的多樣性,此特徵類似於體染色體遺傳性神經疾病。電生理與組織學檢查顯示正常中樞神經傳導與軸性周邊神經病變。 |
英文摘要 | Backgorund: The X-lined dominant Charcot-Marie-Tooth neuropathy (CMTX) is a hereditary motor and sensory enurpoapthy linked to a variety of mutations in the connexin32 (Cx32) gene. Clinical and genetic features of CMTX have nto previously been reported in Taiwanese. Methods: Clinical evaluations and electrophysiological stuies were carried out on 25 family members of a Taiwanese family group. Molecular genetic analysis of the Cx32 gene was performed. A sural nerve biopsy was obtained form 1 patient. Results: Nine patients had clinical features of X-linked dominant inheritance and a moderate Charcot-Marie-Tooth (CMT) neuropathy phenotype. Molecular genetic analysis showed no mutation of the Cx32 coding region, but revealed a G-to-A transition at position -215 of the nerve-specific promoter P2 of the Cx32 gene. Ptosis is 1 clinical manifestation of neuropathy int his probable CMTX family. Familial hyperthyroidism is an additional independent feature of the family. Electrophysiological and histological studies showed features of axonal neuropathy. Multimodality evoked potential studies revealed normal central motor and sensory conduction velocities. Conclusions: The presence of ptosis in this family illustrates the existence of clinical heterogeneity among related family members with CMTX similar to that in CMT of autosomal inheritance. Electrophysiological and histological findings revealed normal central conduction and axonal neuropathy. |
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